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Genetic Testing Saves Lives: A Reason to Participate in MAC Research

Dr. Dianna Milewicz, MD, PhD, Medical Geneticist and Genetic Counselor, Andrea Rideout, MS, CGC, CGC discuss the importance of genetic testing for the wellbeing of those with heritable aortic disease, and for their family members who may also be affected, with insights to resources available in Canada. This talk highlights the significant work of the international Montalcino Aortic Consortium (MAC), demonstrating the pivotal role your genetic test can have for life-changing research advancing personalized medical care of genetic aortic disorders. MAC is co-founded and funded by GADA Canada. We thank those who were able to join us and provide your questions before or during the event! If interested in participating in MAC research and if you have questions please do not hesitate to contact us at www.gadacanada.ca or at [email protected]. 00:00 Introduction 5:07 Thoracic Aortic Disease 6:52 Marfan Syndrome: FBN1 Pathogenic Variants 9:07 Heritable Thoracic Aortic Disease Genes 10:50 Loeys-Dietz Syndrome Syndrome 12:10 ACTA2 Pathogenic Variants 13:39 Montalcino Aortic Consortium 18:16 Differences in Disease Severity 25:55 Gender-based risk for Aortic Disease 26:55 Gene-based management 29:23 ACC/AHA Treatment Guidelines 30:08 TGFβ: Location and Type of Arterial Event 31:25 Genetic Architecture of Thoracic Aortic Disease 34:17 Clinical Recommendations 25:45 Acknowledgements 37:23 Genetic Testing for Aortopathy 38:48 What is Aortopathy? 39:59 Genetics Assessment 40:56 Benefits of genetic testing 42:28 How is genetic testing done? 43:27 Types of genetic tests 44:42 Canadian access to genetic testing 46:54 Genetics 101 47:52 Test results 51:45 Autosomal Dominant Inheritance 53:37 Pathogenic variant 53:57 Does it skip a generation? 54:36 DTC Genetic Testing 56:31 What is GWAS? 56:57 Family Planning 58:48 MAC Research Participation 1:00:06 Q&A 1:19:57 Register for HAD!   / aorticdisorders     / aorticdisorders